Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6001930
rs6001930 		0.925 0.080 22 40480230 intron variant T/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 4 2013 2017
dbSNP: rs6001930
rs6001930 		0.925 0.080 22 40480230 intron variant T/C snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2013 2016
dbSNP: rs133047
rs133047 		1.000 0.040 22 40631815 intron variant T/C snv 0.93
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 3 2015 2019
dbSNP: rs10483205
rs10483205 		22 40487595 intron variant C/T snv 7.9E-02
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2018 2018
dbSNP: rs112785404
rs112785404 		22 40441831 intron variant T/C snv 2.0E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs112880707
rs112880707 		22 40488658 intron variant C/T snv 8.0E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs133047
rs133047 		1.000 0.040 22 40631815 intron variant T/C snv 0.93
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs133047
rs133047 		1.000 0.040 22 40631815 intron variant T/C snv 0.93
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs17001943
rs17001943 		22 40466609 intron variant A/G snv 8.4E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs17001974
rs17001974 		22 40481380 intron variant C/T snv 0.12
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs17001977
rs17001977 		22 40484209 intron variant G/A snv 7.9E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs17002036
rs17002036 		22 40601107 intron variant G/A snv 7.8E-02
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2018 2018
dbSNP: rs199796575
rs199796575 		22 40569767 intron variant A/C snv 7.5E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs5995875
rs5995875 		22 40564688 intron variant C/T snv 9.8E-02
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2016 2016
dbSNP: rs6001939
rs6001939 		22 40496790 intron variant C/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs6001960
rs6001960 		1.000 0.040 22 40547028 intron variant A/G snv 0.77
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6001982
rs6001982 		1.000 0.080 22 40623944 intron variant C/A snv 9.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs66987842
rs66987842 		1.000 0.080 22 40508704 intron variant TT/-;T;TTT;TTTT;TTTTTTTT;TTTTTTTTTTTTTT delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs729982
rs729982 		1.000 22 40414942 intron variant T/C;G snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs729982
rs729982 		1.000 22 40414942 intron variant T/C;G snv
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs73167082
rs73167082 		22 40489495 intron variant T/C snv 7.8E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs8139521
rs8139521 		22 40536324 intron variant A/C snv 0.76
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs878756
rs878756 		22 40418496 missense variant T/C;G snv 0.38
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9607721
rs9607721 		22 40466116 intron variant A/G snv 0.18
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6001946
rs6001946 		1.000 0.040 22 40507417 intron variant A/G snv 0.12
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2015 2016